A rare cause of dyspnoea: the LEOPARD syndrome

The LEOPARD syndrome is a rare hereditary disorder in Asian countries. This syndrome involves complex malformations and other features. Though the LEOPARD syndrome is rare, diagnosis is important since it can be related with serious cardiac ailments. Patients must be followed up regularly in order to reduce the risk of sudden death which is the most severe complication. The study presents the case of a 23-year-old woman who had dyspnoea on daily exercises. She had multiple lentigines, cardiac anomalies (apical hypertrophic cardiomyopathy, left ventricular hypertrophy and pulmonary stenosis), ocular hypertelorism and abnormal electrocardiographic findings. Based on the findings, the patient was diagnosed with the LEOPARD syndrome.